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Published on: May 26, 2023
Normal and abnormal foveal development
Mervyn G Thomas1, Eleni Papageorgiou2, Helen J Kuht3
1Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK mt350@le.ac.uk ig15@le.ac.uk.
Insights
Foveal development involves inner retinal layer displacement and outer retinal changes after birth. Assessing foveal hypoplasia (FH) using optical coherence tomography aids diagnosis and predicts visual acuity, especially in children.
Area of Science:
- Ophthalmology
- Developmental Biology
- Genetics
Background:
- Normal foveal development begins in utero with inner retinal layer displacement.
- Outer retinal changes, including cone cell body increase and elongation, occur postnatally until age 13.
- Optical coherence tomography (OCT) assesses foveal maturity, revealing a pit, extruded inner retinal layers, thickened outer nuclear layer, and elongated outer segments.
Purpose of the Study:
- To describe normal and abnormal foveal development.
- To highlight the role of optical coherence tomography in assessing foveal maturity and abnormalities.
- To establish the correlation between foveal hypoplasia grading and visual acuity.
Main Methods:
- Review of normal foveal development stages.
- Analysis of optical coherence tomography findings in various foveal hypoplasia conditions.
- Correlation of foveal hypoplasia morphology and outer segment thickness with visual acuity.
Main Results:
- Foveal hypoplasia (FH) results from developmental abnormalities and is associated with conditions like albinism, aniridia, and achromatopsia.
- Outer retinal layer disruption and abnormal inner retinal layer lamination are observed in conditions like achromatopsia and retinal dystrophies.
- Outer segment thickness serves as a surrogate marker for cone density, strongly correlating with visual acuity in FH.
Conclusions:
- Foveal hypoplasia morphology provides diagnostic clues, and its grading correlates with visual acuity.
- Outer segment thickness is a key indicator of cone density and visual prognosis in foveal hypoplasia.
- Grading foveal hypoplasia in preverbal children can help predict future visual acuity.
Abstract:
Normal foveal development begins in utero at midgestation with centrifugal displacement of inner retinal layers (IRLs) from the location of the incipient fovea. The outer retinal changes such as increase in cone cell bodies, cone elongation and packing mainly occur after birth and continue until 13 years of age. The maturity of the fovea can be assessed invivo using optical coherence tomography, which in normal development would show a well-developed foveal pit, extrusion of IRLs, thickened outer nuclear layer and long outer segments. Developmental abnormalities of various degrees can result in foveal hypoplasia (FH). This is a characteristic feature for example in albinism, aniridia, prematurity, foveal hypoplasia with optic nerve decussation defects with or without anterior segment dysgenesis without albinism (FHONDA) and optic nerve hypoplasia. In achromatopsia, there is disruption of the outer retinal layers with atypical FH. Similarly, in retinal dystrophies, there is abnormal lamination of the IRLs sometimes with persistent IRLs. Morphology of FH provides clues to diagnoses, and grading correlates to visual acuity. The outer segment thickness is a surrogate marker for cone density and in foveal hypoplasia this correlates strongly with visual acuity. In preverbal children grading FH can help predict future visual acuity.
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